ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9053G>A (p.Arg3018Gln)

gnomAD frequency: 0.00001  dbSNP: rs201831561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224094 SCV001396272 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2023-04-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 952053). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs201831561, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 3045 of the PLEC protein (p.Arg3045Gln).
Ambry Genetics RCV002563652 SCV003609627 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.9134G>A (p.R3045Q) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 9134, causing the arginine (R) at amino acid position 3045 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132293 SCV003817886 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing

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